The emerging clinical relevance of genomics in cancer medicine

MF Berger, ER Mardis - Nature reviews Clinical oncology, 2018 - nature.com
The combination of next-generation sequencing and advanced computational data analysis
approaches has revolutionized our understanding of the genomic underpinnings of cancer …

Synthetic lethality and cancer

NJ O'Neil, ML Bailey, P Hieter - Nature Reviews Genetics, 2017 - nature.com
A synthetic lethal interaction occurs between two genes when the perturbation of either gene
alone is viable but the perturbation of both genes simultaneously results in the loss of …

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer

M Griffith, NC Spies, K Krysiak, JF McMichael… - Nature …, 2017 - nature.com
CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in
Cancer describing the therapeutic, prognostic, diagnostic and predisposing relevance of …

[HTML][HTML] Whole-genome and transcriptome analysis enhances precision cancer treatment options

E Pleasance, A Bohm, LM Williamson, JMT Nelson… - Annals of …, 2022 - Elsevier
Background Recent advances are enabling delivery of precision genomic medicine to
cancer clinics. While the majority of approaches profile panels of selected genes or hotspot …

Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial

TL Stockley, AM Oza, HK Berman, NB Leighl, JJ Knox… - Genome medicine, 2016 - Springer
Background The clinical utility of molecular profiling of tumor tissue to guide treatment of
patients with advanced solid tumors is unknown. Our objectives were to evaluate the …

Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes

E Pleasance, E Titmuss, L Williamson, H Kwan… - Nature Cancer, 2020 - nature.com
Advanced and metastatic tumors with complex treatment histories drive cancer mortality.
Here we describe the POG570 cohort, a comprehensive whole-genome, transcriptome and …

Homologous recombination deficiency and platinum-based therapy outcomes in advanced breast cancer

EY Zhao, Y Shen, E Pleasance, K Kasaian… - Clinical Cancer …, 2017 - AACR
Purpose: Recent studies have identified mutation signatures of homologous recombination
deficiency (HRD) in over 20% of breast cancers, as well as pancreatic, ovarian, and gastric …

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

P Robbe, N Popitsch, SJL Knight, P Antoniou… - Genetics in …, 2018 - nature.com
Purpose Fresh-frozen (FF) tissue is the optimal source of DNA for whole-genome
sequencing (WGS) of cancer patients. However, it is not always available, limiting the …

[HTML][HTML] Molecular tumor boards: current practice and future needs

DL Van der Velden, CML Van Herpen… - Annals of …, 2017 - Elsevier
Background Due to rapid technical advances, steeply declining sequencing costs, and the
ever-increasing number of targeted therapies, it can be expected that extensive tumor …

Genome and transcriptome biomarkers of response to immune checkpoint inhibitors in advanced solid tumors

A Pender, E Titmuss, ED Pleasance, KY Fan… - Clinical Cancer …, 2021 - AACR
Purpose: Immune checkpoint inhibitors (ICI) have revolutionized the treatment of solid
tumors with dramatic and durable responses seen across multiple tumor types. However …